Incidental Mutation 'R1543:Arhgef11'
| ID |
171900 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgef11
|
| Ensembl Gene |
ENSMUSG00000041977 |
| Gene Name |
Rho guanine nucleotide exchange factor 11 |
| Synonyms |
PDZ-RhoGEF, Prg |
| MMRRC Submission |
039582-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1543 (G1)
|
| Quality Score |
219 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
87524866-87645341 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 87620324 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 430
(R430H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039900
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039476]
[ENSMUST00000129113]
[ENSMUST00000152006]
|
| AlphaFold |
Q68FM7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039476
AA Change: R430H
PolyPhen 2
Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000039900
Gene: ENSMUSG00000041977
AA Change: R430H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
18 |
N/A |
INTRINSIC |
|
PDZ
|
55 |
123 |
2.45e-18 |
SMART |
|
low complexity region
|
149 |
160 |
N/A |
INTRINSIC |
|
coiled coil region
|
205 |
231 |
N/A |
INTRINSIC |
|
RGS
|
353 |
472 |
3.36e-11 |
SMART |
|
low complexity region
|
554 |
565 |
N/A |
INTRINSIC |
|
low complexity region
|
625 |
639 |
N/A |
INTRINSIC |
|
low complexity region
|
681 |
694 |
N/A |
INTRINSIC |
|
RhoGEF
|
768 |
952 |
1.11e-65 |
SMART |
|
PH
|
996 |
1111 |
9.49e-6 |
SMART |
|
low complexity region
|
1153 |
1166 |
N/A |
INTRINSIC |
|
low complexity region
|
1176 |
1188 |
N/A |
INTRINSIC |
|
low complexity region
|
1333 |
1343 |
N/A |
INTRINSIC |
|
low complexity region
|
1357 |
1367 |
N/A |
INTRINSIC |
|
low complexity region
|
1478 |
1490 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129113
AA Change: R390H
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000118123
Gene: ENSMUSG00000041977
AA Change: R390H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
18 |
N/A |
INTRINSIC |
|
PDZ
|
55 |
123 |
2.45e-18 |
SMART |
|
low complexity region
|
149 |
160 |
N/A |
INTRINSIC |
|
RGS
|
313 |
432 |
3.36e-11 |
SMART |
|
low complexity region
|
596 |
610 |
N/A |
INTRINSIC |
|
low complexity region
|
652 |
665 |
N/A |
INTRINSIC |
|
RhoGEF
|
739 |
923 |
1.11e-65 |
SMART |
|
PH
|
967 |
1082 |
9.49e-6 |
SMART |
|
low complexity region
|
1124 |
1137 |
N/A |
INTRINSIC |
|
low complexity region
|
1147 |
1159 |
N/A |
INTRINSIC |
|
low complexity region
|
1304 |
1314 |
N/A |
INTRINSIC |
|
low complexity region
|
1328 |
1338 |
N/A |
INTRINSIC |
|
low complexity region
|
1449 |
1461 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142799
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152006
AA Change: R430H
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000122166
Gene: ENSMUSG00000041977
AA Change: R430H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
18 |
N/A |
INTRINSIC |
|
PDZ
|
55 |
123 |
2.45e-18 |
SMART |
|
low complexity region
|
149 |
160 |
N/A |
INTRINSIC |
|
coiled coil region
|
205 |
231 |
N/A |
INTRINSIC |
|
RGS
|
353 |
472 |
3.36e-11 |
SMART |
|
low complexity region
|
554 |
565 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1134 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.2%
|
| Validation Efficiency |
95% (77/81) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. A similar protein in rat interacts with glutamate transporter EAAT4 and modulates its glutamate transport activity. Expression of the rat protein induces the reorganization of the actin cytoskeleton and its overexpression induces the formation of membrane ruffling and filopodia. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit no obvious phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810009J06Rik |
G |
A |
6: 40,945,138 (GRCm39) |
V206I |
probably damaging |
Het |
| Abca8b |
A |
C |
11: 109,865,500 (GRCm39) |
M319R |
probably damaging |
Het |
| Abcc6 |
T |
C |
7: 45,665,928 (GRCm39) |
R231G |
probably benign |
Het |
| Acadm |
A |
G |
3: 153,635,209 (GRCm39) |
Y302H |
probably damaging |
Het |
| Acox3 |
C |
A |
5: 35,760,352 (GRCm39) |
R423S |
probably damaging |
Het |
| Adam7 |
T |
A |
14: 68,759,371 (GRCm39) |
|
probably benign |
Het |
| Adgrb3 |
A |
C |
1: 25,527,169 (GRCm39) |
M589R |
probably benign |
Het |
| Adgrl2 |
A |
C |
3: 148,564,909 (GRCm39) |
F224V |
probably damaging |
Het |
| Adm2 |
G |
C |
15: 89,208,282 (GRCm39) |
G74A |
probably damaging |
Het |
| Aen |
T |
A |
7: 78,552,370 (GRCm39) |
V15E |
probably damaging |
Het |
| Ankzf1 |
T |
A |
1: 75,169,160 (GRCm39) |
V22D |
possibly damaging |
Het |
| Arap2 |
T |
A |
5: 62,763,498 (GRCm39) |
K1549* |
probably null |
Het |
| Asb17 |
T |
G |
3: 153,550,148 (GRCm39) |
L60W |
probably damaging |
Het |
| BC035044 |
T |
C |
6: 128,867,948 (GRCm39) |
|
probably benign |
Het |
| Bltp2 |
A |
G |
11: 78,166,000 (GRCm39) |
T1422A |
probably benign |
Het |
| Cacna2d1 |
A |
T |
5: 16,471,716 (GRCm39) |
M254L |
possibly damaging |
Het |
| Celf6 |
T |
C |
9: 59,511,160 (GRCm39) |
|
probably benign |
Het |
| Cemip2 |
G |
T |
19: 21,789,937 (GRCm39) |
A668S |
probably benign |
Het |
| Coro2b |
C |
T |
9: 62,333,123 (GRCm39) |
V120I |
probably benign |
Het |
| Cyp20a1 |
C |
A |
1: 60,415,353 (GRCm39) |
|
probably benign |
Het |
| Cyp2c67 |
C |
A |
19: 39,631,708 (GRCm39) |
|
probably benign |
Het |
| Dclk3 |
A |
G |
9: 111,297,122 (GRCm39) |
H222R |
probably benign |
Het |
| Deaf1 |
A |
G |
7: 140,904,060 (GRCm39) |
S109P |
possibly damaging |
Het |
| Dlg5 |
T |
A |
14: 24,194,516 (GRCm39) |
D1675V |
probably damaging |
Het |
| Dsg2 |
T |
A |
18: 20,727,268 (GRCm39) |
V605E |
probably benign |
Het |
| Dync2i1 |
T |
C |
12: 116,195,404 (GRCm39) |
|
probably benign |
Het |
| Frem2 |
A |
T |
3: 53,479,876 (GRCm39) |
I1939N |
possibly damaging |
Het |
| Fsip2 |
A |
T |
2: 82,811,931 (GRCm39) |
Y2750F |
possibly damaging |
Het |
| Gpr39 |
T |
A |
1: 125,800,161 (GRCm39) |
I304N |
probably damaging |
Het |
| Hdac7 |
G |
A |
15: 97,707,410 (GRCm39) |
|
probably benign |
Het |
| Hipk1 |
T |
C |
3: 103,685,480 (GRCm39) |
H45R |
probably benign |
Het |
| Hyal2 |
T |
C |
9: 107,447,386 (GRCm39) |
L13P |
probably damaging |
Het |
| Kdm1b |
C |
T |
13: 47,221,997 (GRCm39) |
R479W |
probably damaging |
Het |
| Lilrb4b |
A |
G |
10: 51,357,517 (GRCm39) |
T118A |
probably damaging |
Het |
| Lin7a |
C |
A |
10: 107,247,930 (GRCm39) |
F78L |
possibly damaging |
Het |
| Lpin3 |
A |
G |
2: 160,737,310 (GRCm39) |
D119G |
possibly damaging |
Het |
| Lrp2 |
G |
A |
2: 69,331,074 (GRCm39) |
R1661C |
probably damaging |
Het |
| Lrrc45 |
A |
G |
11: 120,610,844 (GRCm39) |
K527E |
probably benign |
Het |
| Map10 |
C |
T |
8: 126,397,611 (GRCm39) |
P335S |
probably benign |
Het |
| Mast3 |
A |
G |
8: 71,244,955 (GRCm39) |
S2P |
possibly damaging |
Het |
| Mbtps1 |
A |
G |
8: 120,268,808 (GRCm39) |
|
probably benign |
Het |
| Mms22l |
T |
A |
4: 24,591,084 (GRCm39) |
N1018K |
probably benign |
Het |
| Nckipsd |
C |
A |
9: 108,689,571 (GRCm39) |
A244D |
possibly damaging |
Het |
| Nt5el |
A |
T |
13: 105,248,877 (GRCm39) |
R364* |
probably null |
Het |
| Or12k5 |
C |
A |
2: 36,895,139 (GRCm39) |
L162F |
probably damaging |
Het |
| Or1j1 |
A |
T |
2: 36,703,069 (GRCm39) |
F12I |
probably damaging |
Het |
| Or4k44 |
A |
G |
2: 111,368,142 (GRCm39) |
V164A |
probably benign |
Het |
| Or52j3 |
T |
A |
7: 102,836,421 (GRCm39) |
F204L |
probably benign |
Het |
| Or8b12c |
T |
A |
9: 37,715,243 (GRCm39) |
I12N |
possibly damaging |
Het |
| Pcx |
A |
T |
19: 4,652,251 (GRCm39) |
D112V |
probably damaging |
Het |
| Phf14 |
G |
A |
6: 11,987,682 (GRCm39) |
|
probably null |
Het |
| Pkd1l1 |
A |
G |
11: 8,851,200 (GRCm39) |
I744T |
probably damaging |
Het |
| Ppip5k2 |
A |
G |
1: 97,668,607 (GRCm39) |
L560P |
probably damaging |
Het |
| Psmd14 |
A |
T |
2: 61,615,874 (GRCm39) |
M248L |
probably benign |
Het |
| Ryr1 |
T |
G |
7: 28,782,962 (GRCm39) |
E1884A |
possibly damaging |
Het |
| Scn4b |
T |
A |
9: 45,061,727 (GRCm39) |
S204R |
probably damaging |
Het |
| Slc12a1 |
A |
T |
2: 125,026,777 (GRCm39) |
M471L |
possibly damaging |
Het |
| Slc17a5 |
A |
G |
9: 78,468,082 (GRCm39) |
V236A |
probably benign |
Het |
| Sobp |
T |
C |
10: 42,897,720 (GRCm39) |
T622A |
probably damaging |
Het |
| Spata31d1a |
G |
T |
13: 59,850,056 (GRCm39) |
R691S |
probably benign |
Het |
| Speg |
A |
G |
1: 75,398,595 (GRCm39) |
E2014G |
probably damaging |
Het |
| Steap4 |
A |
G |
5: 8,025,902 (GRCm39) |
|
probably benign |
Het |
| Tas2r144 |
G |
A |
6: 42,192,537 (GRCm39) |
M92I |
probably benign |
Het |
| Tbc1d5 |
T |
C |
17: 51,242,560 (GRCm39) |
Q179R |
probably benign |
Het |
| Tcf25 |
T |
C |
8: 124,115,326 (GRCm39) |
Y188H |
probably benign |
Het |
| Tmem200a |
G |
A |
10: 25,954,518 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
| Tssk5 |
T |
C |
15: 76,256,409 (GRCm39) |
T337A |
probably benign |
Het |
| Ttc23 |
T |
C |
7: 67,328,743 (GRCm39) |
V228A |
probably benign |
Het |
| Tulp1 |
A |
T |
17: 28,581,645 (GRCm39) |
|
probably benign |
Het |
| Uqcc3 |
A |
G |
19: 8,858,117 (GRCm39) |
F25L |
probably damaging |
Het |
| Vmn2r1 |
G |
A |
3: 63,996,994 (GRCm39) |
G217S |
probably damaging |
Het |
| Vmn2r120 |
C |
T |
17: 57,829,374 (GRCm39) |
E508K |
probably benign |
Het |
| Wdfy3 |
C |
A |
5: 101,991,947 (GRCm39) |
V3451L |
probably benign |
Het |
| Wdr19 |
G |
A |
5: 65,382,033 (GRCm39) |
V418I |
probably benign |
Het |
| Xirp2 |
C |
T |
2: 67,338,383 (GRCm39) |
T208I |
probably benign |
Het |
| Xpnpep1 |
A |
G |
19: 52,980,107 (GRCm39) |
V639A |
probably benign |
Het |
|
| Other mutations in Arhgef11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00898:Arhgef11
|
APN |
3 |
87,636,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00900:Arhgef11
|
APN |
3 |
87,590,867 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL01291:Arhgef11
|
APN |
3 |
87,640,481 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01475:Arhgef11
|
APN |
3 |
87,634,433 (GRCm39) |
splice site |
probably benign |
|
|
IGL01599:Arhgef11
|
APN |
3 |
87,644,353 (GRCm39) |
missense |
probably benign |
|
|
IGL02251:Arhgef11
|
APN |
3 |
87,590,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02651:Arhgef11
|
APN |
3 |
87,606,171 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02884:Arhgef11
|
APN |
3 |
87,635,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02900:Arhgef11
|
APN |
3 |
87,640,467 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL03017:Arhgef11
|
APN |
3 |
87,624,367 (GRCm39) |
nonsense |
probably null |
|
|
ANU05:Arhgef11
|
UTSW |
3 |
87,640,481 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0049:Arhgef11
|
UTSW |
3 |
87,636,500 (GRCm39) |
splice site |
probably null |
|
|
R0049:Arhgef11
|
UTSW |
3 |
87,636,500 (GRCm39) |
splice site |
probably null |
|
|
R0129:Arhgef11
|
UTSW |
3 |
87,635,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0486:Arhgef11
|
UTSW |
3 |
87,596,159 (GRCm39) |
splice site |
probably null |
|
|
R0698:Arhgef11
|
UTSW |
3 |
87,640,766 (GRCm39) |
missense |
probably benign |
0.24 |
|
R0701:Arhgef11
|
UTSW |
3 |
87,640,766 (GRCm39) |
missense |
probably benign |
0.24 |
|
R0849:Arhgef11
|
UTSW |
3 |
87,643,203 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1055:Arhgef11
|
UTSW |
3 |
87,624,425 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1256:Arhgef11
|
UTSW |
3 |
87,634,442 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1401:Arhgef11
|
UTSW |
3 |
87,640,776 (GRCm39) |
nonsense |
probably null |
|
|
R1547:Arhgef11
|
UTSW |
3 |
87,602,709 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1564:Arhgef11
|
UTSW |
3 |
87,609,817 (GRCm39) |
missense |
probably benign |
|
|
R1675:Arhgef11
|
UTSW |
3 |
87,638,518 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R2082:Arhgef11
|
UTSW |
3 |
87,633,303 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R2293:Arhgef11
|
UTSW |
3 |
87,635,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4739:Arhgef11
|
UTSW |
3 |
87,605,306 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4930:Arhgef11
|
UTSW |
3 |
87,635,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5130:Arhgef11
|
UTSW |
3 |
87,633,321 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5151:Arhgef11
|
UTSW |
3 |
87,642,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5157:Arhgef11
|
UTSW |
3 |
87,635,817 (GRCm39) |
splice site |
probably null |
|
|
R5203:Arhgef11
|
UTSW |
3 |
87,642,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5329:Arhgef11
|
UTSW |
3 |
87,587,059 (GRCm39) |
intron |
probably benign |
|
|
R5615:Arhgef11
|
UTSW |
3 |
87,629,792 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5646:Arhgef11
|
UTSW |
3 |
87,591,793 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6125:Arhgef11
|
UTSW |
3 |
87,636,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6242:Arhgef11
|
UTSW |
3 |
87,635,385 (GRCm39) |
missense |
probably benign |
|
|
R6543:Arhgef11
|
UTSW |
3 |
87,640,715 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6801:Arhgef11
|
UTSW |
3 |
87,643,159 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6939:Arhgef11
|
UTSW |
3 |
87,594,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7008:Arhgef11
|
UTSW |
3 |
87,636,525 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7155:Arhgef11
|
UTSW |
3 |
87,616,879 (GRCm39) |
nonsense |
probably null |
|
|
R7169:Arhgef11
|
UTSW |
3 |
87,634,755 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7325:Arhgef11
|
UTSW |
3 |
87,620,599 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7392:Arhgef11
|
UTSW |
3 |
87,624,482 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7683:Arhgef11
|
UTSW |
3 |
87,629,690 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7875:Arhgef11
|
UTSW |
3 |
87,591,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7912:Arhgef11
|
UTSW |
3 |
87,640,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7980:Arhgef11
|
UTSW |
3 |
87,605,297 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8028:Arhgef11
|
UTSW |
3 |
87,642,859 (GRCm39) |
missense |
probably benign |
|
|
R8081:Arhgef11
|
UTSW |
3 |
87,632,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8118:Arhgef11
|
UTSW |
3 |
87,643,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8207:Arhgef11
|
UTSW |
3 |
87,606,082 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8290:Arhgef11
|
UTSW |
3 |
87,633,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8443:Arhgef11
|
UTSW |
3 |
87,620,406 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8543:Arhgef11
|
UTSW |
3 |
87,589,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8808:Arhgef11
|
UTSW |
3 |
87,593,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8969:Arhgef11
|
UTSW |
3 |
87,632,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8976:Arhgef11
|
UTSW |
3 |
87,635,321 (GRCm39) |
missense |
probably benign |
|
|
R8983:Arhgef11
|
UTSW |
3 |
87,640,508 (GRCm39) |
missense |
|
|
|
R8987:Arhgef11
|
UTSW |
3 |
87,637,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9168:Arhgef11
|
UTSW |
3 |
87,633,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9498:Arhgef11
|
UTSW |
3 |
87,640,484 (GRCm39) |
missense |
probably benign |
|
|
R9741:Arhgef11
|
UTSW |
3 |
87,595,156 (GRCm39) |
missense |
probably benign |
0.03 |
|
X0011:Arhgef11
|
UTSW |
3 |
87,629,713 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Arhgef11
|
UTSW |
3 |
87,642,769 (GRCm39) |
missense |
not run |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTCTCCTGCTTTCAGGATAATGGGC -3'
(R):5'- AGGTCATTTTCACCATAGAGGCTGC -3'
Sequencing Primer
(F):5'- CTTTCAGGATAATGGGCCAAAAACTC -3'
(R):5'- GTGCGCTTTGATCTACAACAG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation